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162970
Orphanet classification of rare infertility disorders
98047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98047
Rare infertility
Category
98048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98048
Rare male infertility
Category
98343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98343
Male infertility due to obstructive azoospermia
Category
48
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48
Congenital bilateral absence of vas deferens
Morphological anomaly
399824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399824
Rare disorder with obstructive azoospermia
Category
586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586
Cystic fibrosis
Disease
731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731
Autosomal recessive polycystic kidney disease
Disease
645874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645874
Primary genito-urinary tuberculosis
Disease
548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548
Leprosy
Disease
2856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
Persistent Müllerian duct syndrome
Malformation syndrome
3471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471
Young syndrome
Disease
730
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730
Autosomal dominant polycystic kidney disease
Disease
399572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399572
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
Category
2965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965
Prolactinoma
Disease
91
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
Aromatase deficiency
Disease
174590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590
Congenital hypogonadotropic hypogonadism
Category
181387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
2377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377
Laurence-Moon syndrome
Malformation syndrome
1173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173
Cerebellar ataxia-hypogonadism syndrome
Disease
1180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
Disease
1387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387
Cataract-intellectual disability-hypogonadism syndrome
Malformation syndrome
2230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Disease
2235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Disease
2250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Disease
2560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Malformation syndrome
3464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Woodhouse-Sakati syndrome
Disease
2326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326
Kallmann syndrome-heart disease syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
88637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Clinical subtype
157954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
ANE syndrome
Disease
293967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Malformation syndrome
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
453533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533
Polyendocrine-polyneuropathy syndrome
Disease
181390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
Category
66628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628
Obesity due to congenital leptin deficiency
Etiological subtype
71528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528
Obesity due to prohormone convertase I deficiency
Etiological subtype
90695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
Non-acquired panhypopituitarism
Disease
95494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Combined pituitary hormone deficiencies, genetic forms
Disease
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
95702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702
X-linked adrenal hypoplasia congenita
Disease
179494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494
Obesity due to leptin receptor gene deficiency
Etiological subtype
238666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666
Isolated congenital hypogonadotropic hypogonadism
Disease
478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478
Kallmann syndrome
Clinical subtype
432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432
Normosmic congenital hypogonadotropic hypogonadism
Clinical subtype
52901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901
Isolated follicle stimulating hormone deficiency
Disease
397685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685
Familial hyperprolactinemia
Disease
399584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399584
Rare male infertility due to adrenal disorder
Category
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
99892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892
ACTH-dependent Cushing syndrome
Clinical group
96253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253
Cushing disease
Disease
99889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889
Cushing syndrome due to ectopic ACTH secretion
Disease
189427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427
Cushing syndrome due to bilateral macronodular adrenocortical disease
Disease
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
399685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399685
Rare male infertility due to testicular endocrine disorder
Category
481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481
Kennedy disease
Disease
752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Disease
753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Disease
755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755
Leydig cell hypoplasia
Disease
96265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265
Leydig cell hypoplasia due to complete LH resistance
Clinical subtype
96266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266
Leydig cell hypoplasia due to partial LH resistance
Clinical subtype
325448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448
Leydig cell hypoplasia due to LHB deficiency
Clinical subtype
754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754
Androgen insensitivity syndrome
Clinical group
90797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797
Partial androgen insensitivity syndrome
Disease
99429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429
Complete androgen insensitivity syndrome
Disease
181441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441
Rare disorder with hypergonadotropic hypogonadism
Category
3044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Malformation syndrome
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
2233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Disease
606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606
Proximal myotonic myopathy
Disease
43
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43
X-linked adrenoleukodystrophy
Disease
139396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396
X-linked cerebral adrenoleukodystrophy
Clinical subtype
139399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399
Adrenomyeloneuropathy
Clinical subtype
2229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Malformation syndrome
2232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Disease
2234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Malformation syndrome
2410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410
Hypergonadotropic hypogonadism-cataract syndrome
Malformation syndrome
2558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558
Mikati-Najjar-Sahli syndrome
Malformation syndrome
3464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Woodhouse-Sakati syndrome
Disease
2183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183
Hydrocephalus-obesity-hypogonadism syndrome
Malformation syndrome
90646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646
Deafness-hypogonadism syndrome
Malformation syndrome
163971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971
X-linked intellectual disability, Cilliers type
Disease
163976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976
X-linked intellectual disability, Van Esch type
Malformation syndrome
280679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Disease
399764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399764
Male infertility due to gonadal dysgenesis or sperm disorder
Category
98313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98313
Male infertility due to gonadal dysgenesis
Category
983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983
Testicular regression syndrome
Morphological anomaly
1772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772
45,X/46,XY mixed gonadal dysgenesis
Malformation syndrome
393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393
46,XX testicular difference of sex development
Malformation syndrome
96263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
48,XXXY syndrome
Malformation syndrome
96264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
49,XXXXY syndrome
Malformation syndrome
99329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329
48,XYYY syndrome
Malformation syndrome
251510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510
46,XY partial gonadal dysgenesis
Malformation syndrome
325124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124
Testicular agenesis
Morphological anomaly
399771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399771
Male infertility due to sperm disorder
Category
33364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364
Trichothiodystrophy
Disease
399775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399775
Male infertility with spermatogenesis disorder
Category
1646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646
Partial chromosome Y deletion
Malformation syndrome
399786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399786
Male infertility with spermatogenesis disorder due to single gene mutation
Category
399805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Disease
399808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399808
Male infertility with teratozoospermia due to single gene mutation
Disease
529970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970
Male infertility due to acephalic spermatozoa
Clinical subtype
137893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Clinical subtype
171709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709
Male infertility due to globozoospermia
Clinical subtype
399813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399813
Male infertility due to sperm motility disorder
Category
244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244
Primary ciliary dyskinesia
Disease
94064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064
Deafness-infertility syndrome
Malformation syndrome
276234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234
Non-syndromic male infertility due to sperm motility disorder
Disease
98049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98049
Rare female infertility
Category
180151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151
Rare vaginal malformation
Category
65681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681
Vaginal atresia
Morphological anomaly
96269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269
Isolated partial vaginal agenesis
Morphological anomaly
180154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154
Septate vagina
Morphological anomaly
180157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157
Longitudinal vaginal septum
Clinical subtype
180160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160
Transverse vaginal septum
Clinical subtype
399831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399831
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
Category
963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963
Acromegaly
Disease
2965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965
Prolactinoma
Disease
91
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
Aromatase deficiency
Disease
785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785
Estrogen resistance syndrome
Disease
397685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685
Familial hyperprolactinemia
Disease
399839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399839
Rare female infertility due to a congenital hypogonadotropic hypogonadism
Category
181390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
Category
66628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628
Obesity due to congenital leptin deficiency
Etiological subtype
71528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528
Obesity due to prohormone convertase I deficiency
Etiological subtype
90695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
Non-acquired panhypopituitarism
Disease
95494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Combined pituitary hormone deficiencies, genetic forms
Disease
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
95702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702
X-linked adrenal hypoplasia congenita
Disease
179494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494
Obesity due to leptin receptor gene deficiency
Etiological subtype
238666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666
Isolated congenital hypogonadotropic hypogonadism
Disease
478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478
Kallmann syndrome
Clinical subtype
432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432
Normosmic congenital hypogonadotropic hypogonadism
Clinical subtype
399846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399846
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
399849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399849
Rare female infertility due to an adrenal disorder
Category
752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Disease
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
99892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892
ACTH-dependent Cushing syndrome
Clinical group
96253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253
Cushing disease
Disease
99889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889
Cushing syndrome due to ectopic ACTH secretion
Disease
399853
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399853
Rare female infertility due to an anomaly of ovarian function
Category
9
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9
Tetrasomy X
Malformation syndrome
3375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375
Trisomy X
Malformation syndrome
2297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297
Insulin-resistance syndrome type A
Disease
3143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143
Autoimmune polyendocrinopathy type 2
Disease
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
75325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Disease
79239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Classic galactosemia
Disease
96201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201
X small rings
Malformation syndrome
572354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Clinical subtype
399877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399877
Rare female infertility due to gonadal dysgenesis
Category
444048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048
46,XX ovarian dysgenesis-short stature syndrome
Disease
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243
46,XX gonadal dysgenesis
Malformation syndrome
2138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138
46,XX ovotesticular difference of sex development
Malformation syndrome
2855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Perrault syndrome
Disease
642945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945
Perrault syndrome type 1
Clinical subtype
642976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976
Perrault syndrome type 2
Clinical subtype
251510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510
46,XY partial gonadal dysgenesis
Malformation syndrome
399882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399882
Rare female infertility due to an implantation defect
Category
1916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916
Diethylstilbestrol syndrome
Malformation syndrome
3109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Mayer-Rokitansky-Küster-Hauser syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
247775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Clinical subtype
180122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122
Septate uterus
Clinical group
180126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126
Complete septate uterus
Morphological anomaly
180129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129
Partial septate uterus
Morphological anomaly
180142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142
Absence of uterine body
Morphological anomaly
180145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145
Uterine cervical aplasia and agenesis
Morphological anomaly
404469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404469
Rare female infertility due to oocyte maturation defect
Category
488191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191
Female infertility due to oocyte meiotic arrest
Disease
404466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466
Female infertility due to zona pellucida defect
Disease